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Congenital dysfibrinogenemia is an inherited disorder in which one of the parental genes produces an abnormal fibrinogen. This fibrinogen interferes with normal blood clotting and/or lysis of blood clots. The condition therefore may cause pathological bleeding and/or thrombosis.
Haemophilia A is a recessive X-linked genetic disorder resulting in a deficiency of functional clotting Factor VIII. [41] Haemophilia B is also a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX. [44] Haemophilia C is an autosomal genetic disorder involving a lack of functional clotting Factor XI.
A number of different mediating factors can cause this condition; either from within the blood cell itself (intrinsic factors) or outside of the cell (extrinsic factors). [39] Congenital hemolytic anemia: Fanconi anemia: D61.0: 4745: D005199 Fanconi anemia is a rare genetic autosomal recessive aplastic anemia that involves chromosomes 9q and ...
The normal clotting process depends on the interplay of various proteins in the blood. Coagulopathy may be caused by reduced levels or absence of blood-clotting proteins, known as clotting factors or coagulation factors. Genetic disorders, such as hemophilia and Von Willebrand disease, can cause a reduction in clotting factors. [2]
The incorrectly glycosalated fibrinogen is dysfunctional and may cause pathological episodes of bleeding and/or blood clotting. [5] Congenital hypodysfibrinogenemia, an inherited disorder in which low levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause pathological episodes of bleeding or blood clotting. [6]
X chromosome. The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why males are affected in greater numbers. [9] [10] A change in the F9 gene, which makes blood clotting factor IX (9), causes haemophilia B. [11]